hypoventilation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). (Human Phenotype Ontology, HP_0002791)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002791
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Genes

18 genes associated with the hypoventilation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ASCL1 achaete-scute family bHLH transcription factor 1
BDNF brain-derived neurotrophic factor
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
DCTN1 dynactin 1
DMD dystrophin
EDN3 endothelin 3
FKRP fukutin related protein
GDNF glial cell derived neurotrophic factor
MECP2 methyl CpG binding protein 2
MOGS mannosyl-oligosaccharide glucosidase
NDN necdin, melanoma antigen (MAGE) family member
PHOX2B paired-like homeobox 2b
RET ret proto-oncogene
SEPN1 selenoprotein N, 1
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SNRPN small nuclear ribonucleoprotein polypeptide N